Celiac disease (CD), a malabsorption syndrome caused by hypersensitivity to gliadin fraction of gluten. CD can manifest with classic symptoms; however, significant myopathy and multiple fractures are rarely the predominant presentation of untreated celiac disease. Osteomalacia complicating celiac disease had become more and more rare. We describe here a case of osteomalacia secondary to a longstanding untreated celiac disease. This patient complained about progressive bone and muscular pain, weakness, fractures and skeletal deformities. Radiological and laboratory findings were all in favor of severe osteomalacia. Improvement of patient's weakness and laboratory abnormalities was obvious after treatment with gluten free diet, vitamin D, calcium and iron. This case affirms that chronic untreated celiac disease, can lead to an important bone loss and irreversible complications like skeletal deformities.

Introduction

Celiac disease (CD) is a chronic digestive disease that results in hypersensitivity to the gliadin fraction of Gluten. Classically, the disease manifests with diarrhea, sometimes steatorrhea, weight loss and complications caused by anemia [1,2]. There are very few reports of osteomalacia as the presenting symptom, and even fewer of osteomalacia as the only symptom of celiac disease at presentation [2]. Similarly, significant myopathy and multiple fractures are rarely the predominant presentation of untreated celiac disease [3]. In this article, we will present a patient referred to our hospital with an extremely low bone mineral density due to severe osteomalacia with longstanding celiac disease.

Patient and observation

A 36-year-old Moroccan woman was admitted to our department because
of suspected osteomalacia. Her medical history revealed growth
retardation and the diagnosis of celiac disease in childhood. On
admittance to our hospital,
the patient complained of progressive bone and muscular pain over
the last 2 years, mainly located in the ribs, spine, hips, and
shoulders which had
led to a double symptomatic fracture of the wrist and femur. She
also had severe difficulty with walking. She had neither abdominal
complaints nor
diarrhea. On physical examination, she was pale. Her body mass
index was 17,52. She had bad dentition, pronounced thoracic kyphosis
(hyperbolic chest)
with thoracic and lumbar percussion pain. Pelvis and shoulders
also were painful on touching. There was muscle atrophy and symmetrical
loss of proximal
muscle strength. She had a painful limitation of the hips, left
wrist and a genu varum (Figure
1). The dermatologic examination
noted dermatitis herpetiformis
at the arm (Figure 2).
The relevant blood parameters were as follows: Calcemia: 92 mg/l (95-105); phosphatemia:
14 mg/l (25-45); low urine Calcium: 77,4 mg/24 h (100-300); alkaline
phosphatase: 283 UI/l (35-117); low 25-hydroxy-vitamin D level <9 ng/ml
(>30); PTH: 281,6
pg/ml (12-70) and iron deficiency anemia (hemoglobin: 10 g/dl,
iron: 0.12 mg/l). Radiographs of the pelvis and limbs showed multiple
fractures (Figure 3, Figure
4) and the radiography of the skull revealed a severe
dental enamel defects (Figure
5). Bone mineral density measurement
showed extremely low absolute
values and T-scores: 0.617 g/cm2 (T-score:-3,9) at the femoral
neck, 0.882 g/cm2 (T-score:-4,8) at the lumbar spine and 0,22g/cm² (T-score:-5,3)
at the forearm. The patient responded well clinically and biologically
to a
gluten-free diet, iron and calcium-vitamin D supplementation.

Discussion

Celiac disease is a chronic digestive disease due to hypersensitivity
to gliadin fraction of gluten. Classically, this disease is characterized
by diarrhea, weight loss and anemia. The diagnosis is based on
positive IgA and IgG antigliadin and endomysial antibodies and
endoscopic detection
of inflammation and atrophy of the duodenal mucosa [4].
Women comprise approximately 75% of newly diagnosed adult celiac
disease and tend to have more clinically prominent disease [5].
It is often accompanied by extraintestinal complications: anemia,
dermatitis herpetiformis, depression, dementia, defects of dental
enamel, osteopenia
or osteoporosis and osteomalacia [5,6].
The association between celiac disease and osteomalacia has been reported for
the first time in 1953 [7]. Osteomalacia was reported
in some cases as indicative of celiac disease [8,9].
Yet studies on large series of patients with celiac disease found
no evidence confirming this association [3].
Osteomalacia is manifested by back pain and thighs that extend the arms and sides
and a state of extreme weakness and asthenia as our patient. It
has been demonstrated that celiac patients are at increased risk
of fracture [10].
However, in another study, no increase in fracture risk could be
demonstrated for CD [11].

The mechanism of development of bone disease in patients with untreated celiac disease is not clearly defined. Chronic hypocalcemia and vitamin D deficiency are potential factors. Bone loss is explained by the overproduction of cytokines IL-1 alpha, IL-1 beta and TNF-alpha and will be further accelerated by hyperparathyroidism secondary to malabsorption of calcium and vitamin D. these mechanisms will contribute to increased bone resorption and activate bone loss [12].
In our case, it is a severe form of osteomalacia complicating a longstanding untreated celiac disease. There were rare case reports of osteomalacia complicating chronic celiac disease [13]. This case affirms that chronic untreated celiac disease, can lead to irreversible complications like skeletal deformities and short stature.

Conclusion

Finally, in celiac disease, osteomalacia should be suspected in order to start treatment in time to avoid the complications of bone loss.

Competing interests

The authors declare no competing interest.

Authors’ contributions

All the authors contributed to the writing of the paper. All authors read and approved the final version of the manuscript.